When we were first diagnosed with Pitt Hopkins, our doctor told us not to compare Logan to the statistics that we found on the internet. He said that since this is such a rare syndrome the information available is outdated, and certain aspects may or may not apply to her. This was both a sigh of relief and a shock. How is it possible that, in these modern times, there can be such little information about something affecting hundreds of children and young adults?! It is beyond frustrating.
So, Logan does not have some of the most common characteristics of this syndrome. She does not hyperventilate, she does not have any known
seizures (we’ve had 2 clear EEG’s!), and she has a normal brain MRI. Perhaps not having these made it hard for anyone to diagnose her?
She does have some of the facial characteristics: big, wide smile (who wouldn’t want that?!), deep set big eyes (this too?!), and her nose is a bit bridged (I thought this was our Italian heritage coming through). She also has some of the GI issues, like chronic constipation (not fun!), but I think we have found the right tools to manage this. Going on 2 months of clear pipes 🙂 She eats great, but has a hard time chewing, so I have to often grind up some of her solid foods. I don’t know if anyone has been able to explain that part to us yet. We’ve just been going on the theory of poor oral motor skills.
Many of these kiddos have mobility issues and poor motor planning. Logan is physically strong enough and capable to move independently, but something is holding her back. She never crawled, but has recently been trying to on her own. When her little brother started to crawl, she really took notice and started trying. He would crawl right by her, and she would grab him and tackle him. It was one of my favorite things to watch! The laughing from both of them was amazing!
From what I’ve gathered, the average age of walking is 4. So, fingers crossed that in just about 6 months Logan will be taking off! She has created this defense mechanism of keeping her legs locked to keep her balance. This makes it super hard sometimes, and she sometimes looks like a toy soldier when she walks. She can physically walk…she just won’t on her own. I don’t know if she is scared because of poor depth perception (thank you, CVI), poor balance, or if she just doesn’t want to on her own. She can even walk up the stairs while holding onto my hands. We’ve tried walkers and gait trainers, but she is just not interested. Our current PT says we should just make her do it, since she doesn’t want any help from equipment. Just do it, right?!
One of Logan’s favorite things to do is jump in her Merry Muslces jumper. When she is in it she looks like a professional cheerleader doing her toe touches (sorry, I do not know the correct terms as I never cheered or danced), and she can spin around just as well as a professional ice skater. This kid is amazing in it, and does it all with a huge smile! I’ll post a video when I get around to finding it on the cloud. She is getting too big for it, so I’m in search of an alternative. Perhaps one day I can have David build her her very own sensory gym. All 3 kids would love it!
Finally, Logan’s biggest obstacle will be communication. She is not talking, and most kids may never have a vocabulary like ours. We started using the PODD system of alternative communication. I’m still wrapping my brain around it, and am trying to not get frustrated by it, so more will come on that subject. She does understand what we are saying to her, and it will be so great for her to finally be able to tell us her thoughts. Can I fast forward to that somehow???